Clefting
Gene: RERE

RERE (arginine-glutamic acid dipeptide repeats)
EnsemblGeneIds (GRCh38): ENSG00000142599
EnsemblGeneIds (GRCh37): ENSG00000142599
OMIM: 605226, Gene2Phenotype
RERE is in 5 panels

1 review

Catherine Snow (Genomics England)

I don't know

Expansion of phenotype. RERE associated with neurodevelopmental disorder with or without anomalies of the brain, eye or heart (NEDBEH)
A pathogenic, de novo c.4313_4318dupTCCACC proband had cleft palate, incomplete penetrance as other individuals with NEDBEH and same variant (PMID: 27087320 PMID: 29330883) did not display clefting phenotype. There is functional support in mouse models as RERE-deficient embryos have cleft palate. Previously one patient (subject 7) with NEDBEH has been described to have a cleft lip (PMID: 27087320) Therefore rating as Amber
Sources: Literature
Created: 2 Jun 2021, 4:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
clefting

Publications

PMID: 33772547

Created: 2 Jun 2021, 4:58 p.m.

Panel version: 2.31

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Literature

Phenotypes

clefting

OMIM

605226

Clinvar variants

Variants in RERE

Penetrance

None

Publications

PMID: 33772547

Panels with this gene

History Filter Activity

2 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: rere has been classified as Amber List (Moderate Evidence).

2 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes